Canonical Allele Identifier: CA2585788587

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45363920-AGACGCTATCAGCGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363925_45363939del , CM000681.2:g.45363925_45363939del	GRCh38
NC_000019.9:g.45867183_45867197del , CM000681.1:g.45867183_45867197del	GRCh37
NC_000019.8:g.50559023_50559037del	NCBI36
NG_007067.2:g.11653_11667del , LRG_461:g.11653_11667del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.950-24_950-10del	ENSP00000375808.4:n.950-24_950-10del
ENST00000682414.1:c.950-24_950-10del	ENSP00000507019.1:n.950-24_950-10del
ENST00000682508.1:n.979-24_979-10del
ENST00000684218.1:c.*208-24_*208-10del	ENSP00000507804.1:n.*208-24_*208-10del
ENST00000684407.1:c.827-24_827-10del	ENSP00000507775.1:n.827-24_827-10del
ENST00000684458.1:c.950-24_950-10del	ENSP00000508260.1:n.950-24_950-10del
ENST00000391945.10:c.950-24_950-10del MANE Select	ENSP00000375809.4:n.950-24_950-10del
ENST00000587376.6:c.73-24_73-10del
ENST00000646507.1:n.1047-24_1047-10del
ENST00000391941.6:c.878-24_878-10del	ENSP00000375805.2:n.878-24_878-10del
ENST00000391944.7:c.716-24_716-10del	ENSP00000375808.3:n.716-24_716-10del
ENST00000391945.8:c.950-24_950-10del	ENSP00000375809.3:n.950-24_950-10del
ENST00000485403.6:c.878-24_878-10del	ENSP00000431229.2:n.878-24_878-10del
ENST00000587376.5:c.73-24_73-10del
NM_000400.3:c.950-24_950-10del , LRG_461t1:c.950-24_950-10del	NP_000391.1:n.950-24_950-10del
NM_001130867.1:c.878-24_878-10del	NP_001124339.1:n.878-24_878-10del
XM_011526611.1:c.872-24_872-10del	XP_011524913.1:n.872-24_872-10del
XR_935763.1:n.997-24_997-10del
XM_011526611.2:c.872-24_872-10del	XP_011524913.1:n.872-24_872-10del
XM_017026467.1:c.827-24_827-10del	XP_016881956.1:n.827-24_827-10del
XR_001753633.2:n.997-24_997-10del
XR_001753634.2:n.997-24_997-10del
NM_000400.4:c.950-24_950-10del MANE Select	NP_000391.1:n.950-24_950-10del
NM_001130867.2:c.878-24_878-10del	NP_001124339.1:n.878-24_878-10del